Incidental Mutation 'IGL02047:Btbd7'
| ID |
184970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btbd7
|
| Ensembl Gene |
ENSMUSG00000041702 |
| Gene Name |
BTB domain containing 7 |
| Synonyms |
5730507E09Rik, FUP1, E130118E17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
IGL02047
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
102747056-102844730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102760038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 637
(S637G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045652]
[ENSMUST00000223554]
|
| AlphaFold |
Q8CFE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045652
AA Change: S637G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: S637G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
142 |
244 |
1.57e-13 |
SMART |
|
BTB
|
247 |
397 |
2.23e-4 |
SMART |
|
BACK
|
402 |
538 |
1.49e-4 |
SMART |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1088 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223554
AA Change: S637G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
T |
6: 92,808,909 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,728,324 (GRCm39) |
N681S |
possibly damaging |
Het |
| Arpp19 |
T |
G |
9: 74,964,058 (GRCm39) |
S137A |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,896 (GRCm39) |
L149P |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,044,536 (GRCm39) |
M1T |
probably null |
Het |
| Cyp51 |
T |
A |
5: 4,149,244 (GRCm39) |
H211L |
possibly damaging |
Het |
| Cyth1 |
C |
A |
11: 118,059,958 (GRCm39) |
Q333H |
probably damaging |
Het |
| Dennd5a |
G |
A |
7: 109,533,991 (GRCm39) |
T67M |
possibly damaging |
Het |
| Dse |
A |
T |
10: 34,038,841 (GRCm39) |
Y51* |
probably null |
Het |
| Dynlt3 |
A |
T |
X: 9,522,665 (GRCm39) |
Y76* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,778 (GRCm39) |
|
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,118 (GRCm39) |
L53Q |
probably damaging |
Het |
| Igkv4-70 |
A |
T |
6: 69,244,911 (GRCm39) |
D103E |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,180,000 (GRCm39) |
N19S |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,828,476 (GRCm39) |
I477V |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,903,626 (GRCm39) |
S308P |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,562 (GRCm39) |
I299K |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,584,797 (GRCm39) |
I131N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,077,001 (GRCm39) |
V137A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,316,361 (GRCm39) |
V482E |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,246,108 (GRCm39) |
V162A |
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,286,275 (GRCm39) |
V176M |
probably damaging |
Het |
| Plekhb1 |
A |
G |
7: 100,304,506 (GRCm39) |
V47A |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,258 (GRCm39) |
M418I |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,220,882 (GRCm39) |
F438L |
probably damaging |
Het |
| Slc38a5 |
G |
T |
X: 8,139,879 (GRCm39) |
V127L |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,834 (GRCm39) |
|
probably benign |
Het |
| Tdh |
A |
T |
14: 63,734,407 (GRCm39) |
H80Q |
probably benign |
Het |
| Tshz3 |
A |
C |
7: 36,469,893 (GRCm39) |
K627N |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,946,941 (GRCm39) |
P791S |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,332 (GRCm39) |
Y1686H |
probably damaging |
Het |
| Xpot |
G |
T |
10: 121,437,267 (GRCm39) |
|
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,889 (GRCm39) |
G627R |
probably damaging |
Het |
|
| Other mutations in Btbd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02899:Btbd7
|
APN |
12 |
102,803,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Btbd7
|
APN |
12 |
102,774,239 (GRCm39) |
nonsense |
probably null |
|
|
H8562:Btbd7
|
UTSW |
12 |
102,754,561 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03050:Btbd7
|
UTSW |
12 |
102,779,065 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1262:Btbd7
|
UTSW |
12 |
102,754,210 (GRCm39) |
missense |
probably benign |
|
|
R1423:Btbd7
|
UTSW |
12 |
102,751,734 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1437:Btbd7
|
UTSW |
12 |
102,754,349 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1636:Btbd7
|
UTSW |
12 |
102,760,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Btbd7
|
UTSW |
12 |
102,757,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Btbd7
|
UTSW |
12 |
102,778,913 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1921:Btbd7
|
UTSW |
12 |
102,760,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2021:Btbd7
|
UTSW |
12 |
102,756,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Btbd7
|
UTSW |
12 |
102,752,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Btbd7
|
UTSW |
12 |
102,761,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Btbd7
|
UTSW |
12 |
102,761,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3786:Btbd7
|
UTSW |
12 |
102,804,411 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4396:Btbd7
|
UTSW |
12 |
102,751,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4809:Btbd7
|
UTSW |
12 |
102,760,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4910:Btbd7
|
UTSW |
12 |
102,774,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4915:Btbd7
|
UTSW |
12 |
102,804,046 (GRCm39) |
nonsense |
probably null |
|
|
R5054:Btbd7
|
UTSW |
12 |
102,804,471 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5276:Btbd7
|
UTSW |
12 |
102,804,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5387:Btbd7
|
UTSW |
12 |
102,804,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5665:Btbd7
|
UTSW |
12 |
102,751,456 (GRCm39) |
missense |
probably benign |
|
|
R7083:Btbd7
|
UTSW |
12 |
102,754,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Btbd7
|
UTSW |
12 |
102,804,464 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7429:Btbd7
|
UTSW |
12 |
102,804,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Btbd7
|
UTSW |
12 |
102,803,981 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7469:Btbd7
|
UTSW |
12 |
102,779,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7998:Btbd7
|
UTSW |
12 |
102,761,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Btbd7
|
UTSW |
12 |
102,754,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Btbd7
|
UTSW |
12 |
102,804,241 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8783:Btbd7
|
UTSW |
12 |
102,754,501 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8968:Btbd7
|
UTSW |
12 |
102,779,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Btbd7
|
UTSW |
12 |
102,751,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Btbd7
|
UTSW |
12 |
102,804,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Btbd7
|
UTSW |
12 |
102,761,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Btbd7
|
UTSW |
12 |
102,777,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Btbd7
|
UTSW |
12 |
102,760,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Btbd7
|
UTSW |
12 |
102,778,945 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Btbd7
|
UTSW |
12 |
102,777,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Btbd7
|
UTSW |
12 |
102,777,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation